Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

A. D'Amico; G. Haliloglu; P. Richard; B. Talim; S. Maugenre; A. Ferreiro; P. Guicheney; I. Menditto; S. Benedetti; E. Bertini; G. Bonne; H. Topaloglu

doi:10.1016/j.nmd.2005.03.006

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

A. D'Amico, G. Haliloglu, P. Richard, B. Talim, S. Maugenre, A. Ferreiro, P. Guicheney, I. Menditto, S. Benedetti, E. Bertini, G. Bonne, H. Topaloglu

Research output: Contribution to journal › Article › peer-review

Abstract

Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy.

Original language	English
Pages (from-to)	521-524
Number of pages	4
Journal	Neuromuscular Disorders
Volume	15
Issue number	8
DOIs	https://doi.org/10.1016/j.nmd.2005.03.006
Publication status	Published - Aug 2005

Keywords

Congenital muscular dystrophy
Dropped head
Lamin A/C
SEPN1

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Neurology

Access to Document

10.1016/j.nmd.2005.03.006

Cite this

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. / D'Amico, A.; Haliloglu, G.; Richard, P.; Talim, B.; Maugenre, S.; Ferreiro, A.; Guicheney, P.; Menditto, I.; Benedetti, S.; Bertini, E.; Bonne, G.; Topaloglu, H.

In: Neuromuscular Disorders, Vol. 15, No. 8, 08.2005, p. 521-524.

Research output: Contribution to journal › Article › peer-review

@article{38175c0950734b36ae808b981135c00f,

title = "Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes",

abstract = "Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy.",

keywords = "Congenital muscular dystrophy, Dropped head, Lamin A/C, SEPN1",

author = "A. D'Amico and G. Haliloglu and P. Richard and B. Talim and S. Maugenre and A. Ferreiro and P. Guicheney and I. Menditto and S. Benedetti and E. Bertini and G. Bonne and H. Topaloglu",

year = "2005",

month = aug,

doi = "10.1016/j.nmd.2005.03.006",

language = "English",

volume = "15",

pages = "521--524",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd",

number = "8",

}

TY - JOUR

T1 - Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

AU - D'Amico, A.

AU - Haliloglu, G.

AU - Richard, P.

AU - Talim, B.

AU - Maugenre, S.

AU - Ferreiro, A.

AU - Guicheney, P.

AU - Menditto, I.

AU - Benedetti, S.

AU - Bertini, E.

AU - Bonne, G.

AU - Topaloglu, H.

PY - 2005/8

Y1 - 2005/8

N2 - Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy.

AB - Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy.

KW - Congenital muscular dystrophy

KW - Dropped head

KW - Lamin A/C

KW - SEPN1

UR - http://www.scopus.com/inward/record.url?scp=22744459386&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=22744459386&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2005.03.006

DO - 10.1016/j.nmd.2005.03.006

M3 - Article

C2 - 15961312

AN - SCOPUS:22744459386

VL - 15

SP - 521

EP - 524

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 8

ER -

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this